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Details

Role Group Leader / Honorary Fellow Manager
Research area Clinical Sciences

Contact

Available for student supervision
I am a consultant clinical geneticist and clinician scientist with a research focus on human genetics. In 2016 I was appointed to the position of inaugural Pamela and Lorenzo Galli Chair in Developmental Medicine, with a specific research and clinical focus on the causes of intellectual and physical disability.

I completed RACP training in paediatrics and clinical genetics in 2000 before undertaking PhD studies in chromosome biology completed in 2004. Since 2005 I have worked as a consultant clinical geneticist at Victorian Clinical Genetics Services (VCGS) and as a Research Group leader at Murdoch Children’s Research Institute (MCRI). From 2009 to 2016 I was Director of Victorian Clinical Genetics Services.
I am a consultant clinical geneticist and clinician scientist with a research focus on human genetics. In 2016 I was appointed to the position of inaugural Pamela and Lorenzo Galli Chair in Developmental Medicine, with a specific research and...
I am a consultant clinical geneticist and clinician scientist with a research focus on human genetics. In 2016 I was appointed to the position of inaugural Pamela and Lorenzo Galli Chair in Developmental Medicine, with a specific research and clinical focus on the causes of intellectual and physical disability.

I completed RACP training in paediatrics and clinical genetics in 2000 before undertaking PhD studies in chromosome biology completed in 2004. Since 2005 I have worked as a consultant clinical geneticist at Victorian Clinical Genetics Services (VCGS) and as a Research Group leader at Murdoch Children’s Research Institute (MCRI). From 2009 to 2016 I was Director of Victorian Clinical Genetics Services.

Top Publications

  • Hui, L, Pynaker, C, Kennedy, J, Lewis, S, Amor, DJ, Walker, SP, Halliday, J. Study protocol: childhood outcomes of fetal genomic variants: the PrenatAL Microarray (PALM) cohort study. BMC Pediatrics 21(1) : 447 2021
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  • Frewer, V, Gilchrist, CP, Collins, SE, Williams, K, Seal, ML, Leventer, RJ, Amor, DJ. A systematic review of brain MRI findings in monogenic disorders strongly associated with autism spectrum disorder. Journal of Child Psychology and Psychiatry 62(11) : 1339 -1352 2021
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  • Park, HA, Neumeyer, S, Michailidou, K, Bolla, MK, Wang, Q, Dennis, J, Ahearn, TU, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, et al. Mendelian randomisation study of smoking exposure in relation to breast cancer risk. British Journal of Cancer 125(8) : 1135 -1145 2021
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  • Stutterd, CA, Kidd, A, Florkowski, C, Janus, E, Fanjul, M, Raizis, A, Wu, TY, Archer, J, Leventer, RJ, Amor, DJ, et al. Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations. American Journal of Medical Genetics Part A 185(10) : 2941 -2950 2021
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  • Ma, A, Grigg, JR, Flaherty, M, Smith, J, Minoche, AE, Cowley, MJ, Nash, BM, Ho, G, Gayagay, T, Lai, T, et al. Genome sequencing in congenital cataracts improves diagnostic yield. Human Mutation 42(9) : 1173 -1183 2021
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